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Volume 12; Issue 1
Main
Genetic Testing
Volume 12; Issue 1
Genetic Testing
Volume 12; Issue 1
1
CFTR Mutations in Turkish and North African Cystic Fibrosis Patients in Europe: Implications for Screening
Lakeman, Phillis
,
Gille, Johan J.P.
,
Dankert-Roelse, Jeannette E.
,
Heijerman, Harry G.M.
,
Munck, Anne
,
Iron, Albert
,
Grasemann, Hartmut
,
Schuster, Antje
,
Cornel, Martina C.
,
ten Kate, Leo P.
Journal:
Genetic Testing
Year:
2008
Language:
english
File:
PDF, 222 KB
Your tags:
english, 2008
2
Genetic Carrier Screening for Spinal Muscular Atrophy and Spinal Muscular Atrophy with Respiratory Distress 1 in an Isolated Population in Israel
Basel-Vanagaite, Lina
,
Taub, Ellen
,
Drasinover, Valerie
,
Magal, Nurit
,
Brudner, Alona
,
Zlotogora, Joel
,
Shohat, Mordechai
Journal:
Genetic Testing
Year:
2008
Language:
english
File:
PDF, 142 KB
Your tags:
english, 2008
3
New Mutations in the Wilson Disease Gene, ATP7B : Implications for Molecular Testing
Davies, Lisa Prat
,
Macintyre, Georgina
,
Cox, Diane W.
Journal:
Genetic Testing
Year:
2008
Language:
english
File:
PDF, 10.55 MB
Your tags:
english, 2008
4
The Influence of Experiential Knowledge on Prenatal Screening and Testing Decisions
Etchegary, Holly
,
Potter, Beth
,
Howley, Heather
,
Cappelli, Mario
,
Coyle, Doug
,
Graham, Ian
,
Walker, Mark
,
Wilson, Brenda
Journal:
Genetic Testing
Year:
2008
Language:
english
File:
PDF, 210 KB
Your tags:
english, 2008
5
Prenatal Diagnosis and Genetic Counseling of a Chinese Alport Syndrome Kindred
Zhang, Hongwen
,
Ding, Jie
,
Wang, Fang
,
Yang, Huixia
Journal:
Genetic Testing
Year:
2008
Language:
english
File:
PDF, 8.36 MB
Your tags:
english, 2008
6
Misclassification of Allele CYP2C19*10 as CY2C19*2 by a Commonly Used PCR-RFLP Procedure
Rasmussen, Henrik
,
Werge, Thomas
Journal:
Genetic Testing
Year:
2008
Language:
english
File:
PDF, 44 KB
Your tags:
english, 2008
7
Diagnosing Smith–Magenis Syndrome and Duplication 17p11.2 Syndrome by RAI1 Gene Copy Number Variation Using Quantitative Real-Time PCR
Truong, Hoa T.
,
Solaymani-Kohal, Sara
,
Baker, Kevin R.
,
Girirajan, Santhosh
,
Williams, Stephen R.
,
Vlangos, Christopher N.
,
Smith, Ann C.M.
,
Bunyan, David J.
,
Roffey, Paul E.
,
Blanchard, Christopher L
Journal:
Genetic Testing
Year:
2008
Language:
english
File:
PDF, 11.50 MB
Your tags:
english, 2008
8
Development and Preliminary Validation of the Cancer Family Impact Scale for Colorectal Cancer
Sinicrope, Pamela S.
,
Vernon, Sally W.
,
Diamond, Pamela M.
,
Patten, Christi A.
,
Kelder, Steven H.
,
Rabe, Kari G.
,
Petersen, Gloria M.
Journal:
Genetic Testing
Year:
2008
Language:
english
File:
PDF, 2.97 MB
Your tags:
english, 2008
9
Search for Subtelomeric Imbalances by Multiplex Ligation-Dependent Probe Amplification in Silver–Russell Syndrome
Eggermann, Katja
,
Schönherr, Nadine
,
Ranke, Michael B.
,
Wollmann, Hartmut A.
,
Binder, Gerhard
,
Eggermann, Thomas
Journal:
Genetic Testing
Year:
2008
Language:
english
File:
PDF, 63 KB
Your tags:
english, 2008
10
Ulna/Height Ratio as Clinical Parameter Separating EXT1 from EXT2 Families?
Leube, Barbara
,
Hardt, Karin
,
Portier, Sebastian
,
Westhoff, Bettina
,
Jäger, Marcus
,
Krauspe, Rüdiger
,
Royer-Pokora, Brigitte
Journal:
Genetic Testing
Year:
2008
Language:
english
File:
PDF, 4.75 MB
Your tags:
english, 2008
11
Frequencies of Promoter Pentanucleotide (TTTTA)n of CYP11A Gene in European and North African Populations
Piras, Ignazio
,
Falchi, Alessandra
,
Moral, Pedro
,
Melis, Alessandra
,
Giovannoni, Laurianne
,
Paoli, Giorgio
,
Calò, Carla
,
Vona, Giuseppe
,
Varesi, Laurent
Journal:
Genetic Testing
Year:
2008
Language:
english
File:
PDF, 89 KB
Your tags:
english, 2008
12
High Prevalence of MTHFR Gene A1298C Polymorphism in Lebanon
Sabbagh, Amira S.
,
Mahfoud, Ziyad
,
Taher, Ali
,
Zaatari, Ghazi
,
Daher, Rose
,
Mahfouz, Rami A.R.
Journal:
Genetic Testing
Year:
2008
Language:
english
File:
PDF, 126 KB
Your tags:
english, 2008
13
Comparison of the Results of PCR-RFLP and Reverse Hybridization Methods Used in Molecular Diagnosis of FMF
Sahin, Feride Iffet
,
Yilmaz, Zerrin
,
Yurtcu, Erkan
,
Baskin, Esra
Journal:
Genetic Testing
Year:
2008
Language:
english
File:
PDF, 89 KB
Your tags:
english, 2008
14
Different Intrafamilial Clinical Presentation of FMF Mutation Carriers
Chalevelakis, Georgios
,
Apostolakis, Ioannis
,
Koliou, Xeni
,
Apessos, Angela
,
Kyriakopoulou, Vanessa
,
Vrakidou, Evfimia
,
Vasilopoulou, Adamantia
,
Lamnisou, Kleoniki
,
Nasioulas, Georgios
Journal:
Genetic Testing
Year:
2008
Language:
english
File:
PDF, 1.73 MB
Your tags:
english, 2008
15
Screening for FXTAS in 95 Spanish Patients Negative for Huntington Disease
Rodriguez-Revenga, Laia
,
Santos, M. Mònica
,
Sánchez, Aurora
,
Pujol, Montserrat
,
Gómez-Anson, Beatriz
,
Badenas, Celia
,
Jiménez, Dolores
,
Madrigal, Irene
,
Milà, Montserrat
Journal:
Genetic Testing
Year:
2008
Language:
english
File:
PDF, 84 KB
Your tags:
english, 2008
16
Cholesterol 7α-Hydrolase ( CYP7A1 ) c.−278A>C Promoter Polymorphism in Gallstone Disease Patients
Juzyszyn, Zygmunt
,
Kurzawski, Mateusz
,
Lener, Agnieszka
,
Modrzejewski, Andrzej
,
Pawlik, Andrzej
,
Droździk, Marek
Journal:
Genetic Testing
Year:
2008
Language:
english
File:
PDF, 85 KB
Your tags:
english, 2008
17
Cancer Genetics Evaluation: Barriers to and Improvements for Referral
Brandt, Rachael
,
Ali, Zonera
,
Sabel, Allison
,
McHugh, Terri
,
Gilman, Paul
Journal:
Genetic Testing
Year:
2008
Language:
english
File:
PDF, 85 KB
Your tags:
english, 2008
18
Factors Determining Dissemination of Results and Uptake of Genetic Testing in Families with Known BRCA1/2 Mutations
Finlay, Esme
,
Stopfer, Jill E.
,
Burlingame, Eric
,
Evans, Katherine Goldfeder
,
Nathanson, Katherine L.
,
Weber, Barbara L.
,
Armstrong, Katrina
,
Rebbeck, Timothy R.
,
Domchek, Susan M.
Journal:
Genetic Testing
Year:
2008
Language:
english
File:
PDF, 197 KB
Your tags:
english, 2008
19
Allelic Variation and Haplotype Structure of the Dopamine Receptor Gene DRD2 in Nine Indian Populations
Bhaskar, L.V.K.S.
,
Thangaraj, K.
,
Mulligan, C.J.
,
Rao, A. Papa
,
Pardhasaradhi, G.
,
Kumar, K. Praveen
,
Shah, Anish M.
,
Sabeera, B.
,
Reddy, A.G.
,
Singh, Lalji
,
Rao, V.R.
Journal:
Genetic Testing
Year:
2008
Language:
english
File:
PDF, 9.05 MB
Your tags:
english, 2008
20
Evaluating Online Direct-to-Consumer Marketing of Genetic Tests: Informed Choices or Buyers Beware?
Geransar, Rose
,
Einsiedel, Edna
Journal:
Genetic Testing
Year:
2008
Language:
english
File:
PDF, 14.16 MB
Your tags:
english, 2008
21
Associations between Anticipated Reactions to Genetic Test Results and Interest in Genetic Testing: Will Self-Selection Reduce the Potential for Harm?
Sanderson, Saskia C.
,
Wardle, Jane
Journal:
Genetic Testing
Year:
2008
Language:
english
File:
PDF, 140 KB
Your tags:
english, 2008
22
Telephone Genetic Counseling for High-Risk Women Undergoing BRCA1 and BRCA2 Testing: Rationale and Development of a Randomized Controlled Trial
Peshkin, Beth N.
,
DeMarco, Tiffani A.
,
Graves, Kristi D.
,
Brown, Karen
,
Nusbaum, Rachel H.
,
Moglia, Diana
,
Forman, Andrea
,
Valdimarsdottir, Heiddis
,
Schwartz, Marc D.
Journal:
Genetic Testing
Year:
2008
Language:
english
File:
PDF, 739 KB
Your tags:
english, 2008
23
Validation of GNE :p.M712T Identification by Melting Curve Analysis
Valles-Ayoub, Yadira
,
Saechao, Chai
,
Haghighatgoo, Arman
,
Neshat, Mehran S.
,
Esfandiarifard, Saghi
,
Pietruszka, Marvin
,
Darvish, Daniel
Journal:
Genetic Testing
Year:
2008
Language:
english
File:
PDF, 100.83 MB
Your tags:
english, 2008
24
An Anomalous Haplotype Distribution of the Arrestin Domain–Containing 4 Gene ( ARRDC4 ) Haplotypes in Caucasians
Knoll, Bettina
,
Goldammer, Mark
,
Wojewoda, Agnieszka
,
Flügge, Jana
,
Johne, Andreas
,
Mrozikiewicz, Przemyslaw M.
,
Roots, Ivar
,
Köpke, Karla
Journal:
Genetic Testing
Year:
2008
Language:
english
File:
PDF, 132 KB
Your tags:
english, 2008
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